Varaico: Literature-Extracted Genetic Variants

ITGB8

67 papers

RefSeq Summary

This gene is a member of the integrin beta chain family and encodes a single-pass type I membrane protein with a VWFA domain and four cysteine-rich repeats. This protein noncovalently binds to an alph...

Pfam Domains

PSI_integrinaa 45–95UCSCIntegrin plexin domain

Integrin_betaaa 142–388UCSCIntegrin beta chain VWA domain

EGF_integrinaa 505–547UCSCIntegrin EGF domain

EGF_Teneurinaa 558–586UCSCTeneurin-like EGF domain

Gene Aliases

HGNC Name

integrin subunit beta 8

HGNC Previous Name

integrin, beta 8

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002214.3

p.V300V

c.900G>A

Surrounding Variants

1 paper

NM_002214.3

p.A297V

c.890C>T

1 paper

NM_002214.3

p.D304V

c.911A>T

1 paper

NM_002214.3

p.L309P

c.926T>C

1 paper

NM_002214.3

p.N249T

c.746A>C

1 paper

NM_002214.3

p.S212Splc

c.635+6T>C

2 papers

NM_002214.3

p.P198_Y199insFs

c.594_595insC

1 paper

NM_002214.3

p.R182C

c.544C>T

1 paper

NM_002214.3

p.I163K

c.488T>A

1 paper

NM_002214.3

p.A131delFs

c.391delG

1 paper

NM_002214.3

p.H349N

c.1045C>A